ClinVar for Gene (Select 121530581) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412469	NM_013243.4(SCG3):c.835A>G (p.Asn279Asp)	LOC121530581, SCG3 (N279D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342357	NC_000015.10:g.51681311_51791472dup	LOC121530581, LOC130057054 +13 more	Duplication	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 17825	CYP19A1, INV, TMOD3 PROMOTER	CYP19A1	Variation	Aromatase excess syndrome	GPathogenic
Select item 17824	CYP19A1, INV, CGNL1 PROMOTER	CYP19A1	Variation	Aromatase excess syndrome	GPathogenic

ClinVar